Dennis Dooijes : rechercher sur Z-Library

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1

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1

Monroe, Glen R, Harakalova, Magdalena, van der Crabben, Saskia N, Majoor-Krakauer, Danielle, Bertoli-Avella, Aida M, Moll, Frans L, Oranen, Björn I, Dooijes, Dennis, Vink, Aryan, Knoers, Nine V, Mauge

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 1.89 MB

english, 2015

2

A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle-specific genes

Harakalova, Magdalena, Kummeling, Gijs, Sammani, Arjan, Linschoten, Marijke, Baas, Annette F., van der Smagt, Jasper, Doevendans, Pieter A., van Tintelen, J. Peter, Dooijes, Dennis, Mokry, Michal, Ass

Journal:

European Journal of Heart Failure

Année:

2015

Langue:

english

Fichier:

PDF, 395 KB

english, 2015

3

Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotype

Ingrid Van de Laar, Dennis Dooijes, Lies Hoefsloot, Marleen Simon, Jeanette Hoogeboom, Koenraad Devriendt

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 137 KB

english, 2007

4

Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes–Brocks syndrome with Duane anomaly

Peter C. van den Akker, Raoul van de Graaf, Dennis Dooijes, Anthonie J. van Essen

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 281 KB

english, 2009

5

A duplication including GATA4 does not co-segregate with congenital heart defects

Irene C. Joziasse, Jasper J. van der Smagt, Martin Poot, Ron Hochstenbach, Marcel R. Nelen, Marielle van Gijn, Dennis Dooijes, Barbara J.M. Mulder, Pieter A. Doevendans

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 168 KB

english, 2009

6

A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease

Sonia M. Rosso, Esther Van Herpen, Wout Deelen, Wouter Kamphorst, Lies-Anne Severijnen, Rob Willemsen, Rivka Ravid, Martinus F. Niermeijer, Dennis Dooijes, Michael J. Smith, Michel Goedert, Peter Heut

Journal:

Annals of Neurology

Année:

2002

Langue:

english

Fichier:

PDF, 3.45 MB

english, 2002

7

Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R

Esther Van Herpen, Sonia M. Rosso, Lies-Anne Serverijnen, Hirotaka Yoshida, Guido Breedveld, Raoul Van De Graaf, Wouter Kamphorst, Rivka Ravid, Rob Willemsen, Dennis Dooijes, Daniëlle Majoor-Krakauer,

Journal:

Annals of Neurology

Année:

2003

Langue:

english

Fichier:

PDF, 337 KB

english, 2003

8

Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population

Dineke S. Verbeek, Bart P. C. van de Warrenburg, F. A. M. Hennekam, Dennis Dooijes, P. F. Ippel, Corien C. Verschuuren-Bemelmans, H. P. H. Kremer, Richard J. Sinke

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 213 KB

english, 2005

9

Association of rareMSH6variants with familial breast cancer

Marijke Wasielewski, Muhammad Riaz, Joyce Vermeulen, Ans van den Ouweland, Ineke Labrijn-Marks, Renske Olmer, Linda van der Spaa, Jan G. M. Klijn, Hanne Meijers-Heijboer, Dennis Dooijes, Mieke Schutte

Journal:

Breast Cancer Research and Treatment

Année:

2010

Langue:

english

Fichier:

PDF, 193 KB

english, 2010

10

Control of gene expression during lymphoid development: targeted gene disruption provides new clues

DENNIS DOOIJES, HANS CLEVERS

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 798 KB

english, 1997

11

Cell differentiation by interaction of two HMG-box proteins: Mat1-Mc activates M cell-specific genes in S.pombe by recruiting the ubiquitous transcription factor Ste11 to weak binding sites

Kjærulff, Søren, Dooijes, Dennis, Clevers, Hans, Nielsen, Olaf

Journal:

The EMBO Journal

Année:

1997

Langue:

english

Fichier:

PDF, 572 KB

english, 1997

12

Characterization of adenovirus type 5 insertion and deletion mutants encoding altered DNA binding proteins

Hans L. Vos, Douglas E. Brough, Frédérique M. Van Der^Lee, Rob C. Hoeben, Gijs F.M. Verheijden, Dennis Dooijes, Daniel F. Klessig, John S. Sussenbach

Journal:

Année:

1989

Langue:

english

Fichier:

PDF, 753 KB

english, 1989

13

Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23

Georgy Bakalkin, Hiroyuki Watanabe, Justyna Jezierska, Cloë Depoorter, Corien Verschuuren-Bemelmans, Igor Bazov, Konstantin A. Artemenko, Tatjana Yakovleva, Dennis Dooijes, Bart P.C. Van de Warrenburg

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 31 KB

english, 2010

14

Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23

Georgy Bakalkin, Hiroyuki Watanabe, Justyna Jezierska, Cloë Depoorter, Corien Verschuuren-Bemelmans, Igor Bazov, Konstantin A. Artemenko, Tatjana Yakovleva, Dennis Dooijes, Bart P.C. Van de Warrenburg

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 668 KB

english, 2010

15

Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement

Yolande van Bever, Saskia J. Gischler, Hans L.J. Hoeve, Liesbeth S. Smit, Jeroen Nauta, Dennis Dooijes

Journal:

European Journal of Medical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 649 KB

english, 2009

16

A novel mutation F826L in the human androgen receptor in partial androgen insensitivity syndrome; increased NH2-/COOH-terminal domain interaction and TIF2 co-activation

Hao Yun Wong, Jos W. Hoogerbrugge, Kar Lok Pang, Marije van Leeuwen, Martin E. van Royen, Michel Molier, Cor A. Berrevoets, Dennis Dooijes, Hendrikus Jan Dubbink, Dennis J. van de Wijngaart, Katja P.

Journal:

Molecular and Cellular Endocrinology

Année:

2008

Langue:

english

Fichier:

PDF, 1.04 MB

english, 2008

17

CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis

Ewout J.N. Groen, Wouter van Rheenen, Max Koppers, Perry T.C. van Doormaal, Lotte Vlam, Frank P. Diekstra, Dennis Dooijes, R. Jeroen Pasterkamp, Leonard H. van den Berg, Jan H. Veldink

Journal:

Neurobiology of Aging

Année:

2012

Langue:

english

Fichier:

PDF, 338 KB

english, 2012

18

Armadillo Coactivates Transcription Driven by the Product of the Drosophila Segment Polarity Gene dTCF

Marc van de Wetering, Robert Cavallo, Dennis Dooijes, Moniek van Beest, Johan van Es, Joseph Loureiro, Arne Ypma, Deborah Hursh, Tamara Jones, Amy Bejsovec, Mark Peifer, Mark Mortin, Hans Clevers

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 548 KB

english, 1997

19

A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia

John C. van Swieten, Esther Brusse, Bianca M. de Graaf, Elmar Krieger, Raoul van de Graaf, Inge de Koning, Anneke Maat-Kievit, Peter Leegwater, Dennis Dooijes, Ben A. Oostra, Peter Heutink

Journal:

The American Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 1.45 MB

english, 2003

20

Diastolic Abnormalities as the First Feature of Hypertrophic Cardiomyopathy in Dutch Myosin-Binding Protein C Founder Mutations

Michelle Michels, Osama I.I. Soliman, Marcel J. Kofflard, Yvonne M. Hoedemaekers, Dennis Dooijes, Danielle Majoor-Krakauer, Folkert J. ten Cate

Journal:

Journal of the American College of Cardiology: Cardiovascular Imaging

Année:

2009

Langue:

english

Fichier:

PDF, 466 KB

english, 2009

21

Clinical and Genetic Characterization of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Caused by a Plakophilin-2 Splice Mutation

van der Smagt, Jasper J., van der Zwaag, Paul A., van Tintelen, J. Peter, Cox, Moniek G.P.J., Wilde, Arthur A.M., van Langen, Irene M., Ummels, Amber, Hennekam, F.A.M., Dooijes, Dennis, Gerbens, Frans

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 327 KB

english, 2012

22

Malignant Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy with a normal 12-lead electrocardiogram: A rare but underrecognized clinical entity

te Riele, Anneline S.J.M., James, Cynthia A., Bhonsale, Aditya, Groeneweg, Judith A., Camm, Christian F., Murray, Brittney, Tichnell, Crystal, van der Heijden, Jeroen F., Dooijes, Dennis, Judge, Danie

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 1.43 MB

english, 2013

23

A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence

Marsman, Roos F., Barc, Julien, Beekman, Leander, Alders, Marielle, Dooijes, Dennis, van den Wijngaard, Arthur, Ratbi, Ilham, Sefiani, Abdelaziz, Bhuiyan, Zahurul A., Wilde, Arthur A.M., Bezzina, Conn

Journal:

Journal of the American College of Cardiology

Année:

2014

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2014

24

Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients withMYBPC3mutations

Dijk, Sabine J., Boontje, Nicky M., Heymans, Martijn W., Cate, Folkert J., Michels, Michelle, Remedios, Cris, Dooijes, Dennis, Slegtenhorst, Marjon A., Velden, Jolanda, Stienen, Ger J. M.

Journal:

Pflügers Archiv European Journal of Physiology

Année:

2014

Langue:

english

Fichier:

PDF, 949 KB

english, 2014

25

T2034 A High Incidence of Msh6 Mutations in Amsterdam II Criteria Negative Families Tested in a Clinical Setting

Ramsoekh, D., Wagner, Anja, van Leerdam, Monique E., Dinjens, W., Steyerberg, E.W., Kuipers, E.J., Dooijes, Dennis

Journal:

Gastroenterology

Année:

2008

Langue:

english

Fichier:

PDF, 82 KB

english, 2008

26

End stage of arrhythmogenic cardiomyopathy with severe involvement of the interventricular septum

Noorman, Maartje, Groeneweg, Judith A., Asimaki, Angeliki, Rizzo, Stefania, Papegaaij, Maartje, van Stuijvenberg, Leonie, de Jonge, Nicolaas, Dooijes, Dennis, Basso, Cristina, Saffitz, Jeffrey E., van

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 1.71 MB

english, 2013

27

Reduced Maximal Force and Increased Ca2+-Sensitivity of Human Myofilaments Harbouring the HCM-Associated Cardiac Troponin T Mutation K273N

van Dijk, Sabine J., Dooijes, Dennis, dos Remedios, Cris, Stienen, Ger J.M., van der Velden, Jolanda

Journal:

Biophysical Journal

Année:

2011

Langue:

english

Fichier:

PDF, 39 KB

english, 2011

28

Myosin Binding Protein C Mutations and Hypertrophic Cardiomyopathy: Haploinsufficiency, Deranged Phosphorylation and Cardiomyocyte Dysfunction

van Dijk, Sabine J., Dooijes, Dennis, dos Remedios, Cris, Lamers, Jos M.J., ten Cate, Folkert J., Stienen, Ger J.M., van der Velden, Jolanda

Journal:

Biophysical Journal

Année:

2009

Langue:

english

Fichier:

PDF, 57 KB

english, 2009

29

A New Functional Measure of Contractility in Human Cardiomyopathies

Li, Amy, King, Dane, Kable, Eleanor, Kagemoto, Tatsuya, van der Velden, Jolanda, Dooijes, Dennis, Macdonald, Peter S., Braet, Filip, Ishiwata, Shin'ichi, dos Remedios, Cristobal G.

Journal:

Biophysical Journal

Année:

2013

Langue:

english

Fichier:

PDF, 46 KB

english, 2013

30

Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family MembersCLINICAL PERSPECTIVE

Groeneweg, Judith A., Bhonsale, Aditya, James, Cynthia A., te Riele, Anneline S., Dooijes, Dennis, Tichnell, Crystal, Murray, Brittney, Wiesfeld, Ans C.P., Sawant, Abhishek C., Kassamali, Bina, Atsma,

Journal:

Circulation Cardiovascular Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.73 MB

english, 2015

31

Cardiac aldosterone in subjects with hypertrophic cardiomyopathy.

Chai, Wenxia, Hoedemaekers, Yvonne, van Schaik, Ron H N, van Fessem, Marianne, Garrelds, Ingrid M, Saris, Jasper, Dooijes, Dennis, ten Cate, Folkert J, Kofflard, Marcel M J, Danser, A H Jan

Journal:

Journal of Renin-Angiotensin-Aldosterone System

Année:

2006

Langue:

english

Fichier:

PDF, 113 KB

english, 2006

32

Approach to family screening in arrhythmogenic right ventricular dysplasia/cardiomyopathy

te Riele, Anneline S.J.M., James, Cynthia A., Groeneweg, Judith A., Sawant, Abhishek C., Kammers, Kai, Murray, Brittney, Tichnell, Crystal, van der Heijden, Jeroen F., Judge, Daniel P., Dooijes, Denni

Journal:

European Heart Journal

Année:

2015

Langue:

english

Fichier:

PDF, 420 KB

english, 2015

33

Functional Analysis of a Novel Androgen Receptor Mutation, Q902K, in an Individual with Partial Androgen Insensitivity

Umar, Arzu, Berrevoets, Cor A., Van, N. Mai, van Leeuwen, Marije, Verbiest, Michael, Kleijer, Wim J., Dooijes, Dennis, Grootegoed, J. Anton, Drop, Stenvert L. S., Brinkmann, Albert O.

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2005

Langue:

english

Fichier:

PDF, 341 KB

english, 2005

34

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in the Pediatric Population

te Riele, Anneline S.J.M., James, Cynthia A., Sawant, Abhishek C., Bhonsale, Aditya, Groeneweg, Judith A., Mast, Thomas P., Murray, Brittney, Tichnell, Crystal, Dooijes, Dennis, van Tintelen, J. Peter

Journal:

JACC: Clinical Electrophysiology

Année:

2015

Langue:

english

Fichier:

PDF, 916 KB

english, 2015

35

A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia

van Gaalen, Judith, Vermeer, Sascha, van Veluw, Marjon, van de Warrenburg, Bart P.C., Dooijes, Dennis

Journal:

Movement Disorders

Année:

2013

Langue:

english

Fichier:

PDF, 151 KB

english, 2013

36

Prolonged Electromechanical Interval Unmasks Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in the Subclinical Stage

MAST, THOMAS P., TESKE, ARCO J., TE RIELE, ANNELINE SJM, GROENEWEG, JUDITH A., VAN DER HEIJDEN, JEROEN F., VELTHUIS, BIRGITTA K., LOH, PETER, DOEVENDANS, PIETER A., VAN VEEN, TOON A., DOOIJES, DENNIS,

Journal:

Journal of Cardiovascular Electrophysiology

Année:

2016

Langue:

english

Fichier:

PDF, 1.28 MB

english, 2016

37

Cancer risk inMLH1,MSH2andMSH6mutation carriers; different risk profiles may influence clinical management

Ramsoekh, Dewkoemar, Wagner, Anja, van Leerdam, Monique E, Dooijes, Dennis, Tops, Carli MJ, Steyerberg, Ewout W, Kuipers, Ernst J

Journal:

Hereditary Cancer in Clinical Practice

Année:

2009

Langue:

english

Fichier:

PDF, 635 KB

english, 2009

38

Influence of Genotype on Structural Atrial Abnormalities and Atrial Fibrillation or Flutter in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

BOURFISS, MIMOUNT, TE RIELE, ANNELINE S.J.M., MAST, THOMAS P., CRAMER, MAARTEN J., VAN DER HEIJDEN, JEROEN F., VAN VEEN, TOON A.B., LOH, PETER, DOOIJES, DENNIS, HAUER, RICHARD N.W., VELTHUIS, BIRGITTA

Journal:

Journal of Cardiovascular Electrophysiology

Année:

2016

Langue:

english

Fichier:

PDF, 1.00 MB

english, 2016

39

Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family

Baas, Annette F., Spiering, Wilko, Moll, Frans L., Page-Christiaens, Lieve, Beenakkers, Ingrid C. M., Dooijes, Dennis, Vonken, Evert-Jan P. A., van der Smagt, Jasper J., Knoers, Nine V., Koenen, Steve

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 1.67 MB

english, 2016

40

Next-generation sequencing of a large gene panel in patients initially diagnosed with idiopathic ventricular fibrillation

Visser, Marloes, Dooijes, Dennis, van der Smagt, Jasper J., van der Heijden, Jeroen F., Doevendans, Pieter A., Loh, Peter, Asselbergs, Folkert W., Hassink, Rutger J.

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2017

41

Evaluation of Structural Progression in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Mast, Thomas P., James, Cynthia A., Calkins, Hugh, Teske, Arco J., Tichnell, Crystal, Murray, Brittney, Loh, Peter, Russell, Stuart D., Velthuis, Birgitta K., Judge, Daniel P., Dooijes, Dennis, Tedfor

Journal:

JAMA Cardiology

Année:

2017

Langue:

english

Fichier:

PDF, 463 KB

english, 2017

42

Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0–4

Wadman, Renske I, Stam, Marloes, Gijzen, Marleen, Lemmink, Henny H, Snoeck, Irina N, Wijngaarde, Camiel A, Braun, Kees P J, Schoenmakers, Marja A G C, van den Berg, Leonard H, Dooijes, Dennis, van der

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Année:

2017

Langue:

english

Fichier:

PDF, 121 KB

english, 2017

43

Distinct fibrosis pattern in desmosomal and phospholamban mutation carriers in hereditary cardiomyopathies

Sepehrkhouy, Shahrzad, Gho, Johannes M.I.H., van Es, René, Harakalova, Magdalena, de Jonge, Nicolaas, Dooijes, Dennis, van der Smagt, Jasper J., Buijsrogge, Marc P., Hauer, Richard N.W., Goldschmeding

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1.24 MB

english, 2017

44

Phospholamban immunostaining is a highly sensitive and specific method for diagnosing phospholamban p.Arg14del cardiomyopathy

te Rijdt, Wouter P., van der Klooster, Z. Joy, Hoorntje, Edgar T., Jongbloed, Jan D.H., van der Zwaag, Paul A., Asselbergs, Folkert W., Dooijes, Dennis, de Boer, Rudolf A., van Tintelen, J. Peter, van

Journal:

Cardiovascular Pathology

Année:

2017

Langue:

english

Fichier:

PDF, 936 KB

english, 2017

45

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia

Nibbeling, Esther A R, Duarri, Anna, Verschuuren-Bemelmans, Corien C, Fokkens, Michiel R, Karjalainen, Juha M, Smeets, Cleo J L M, de Boer-Bergsma, Jelkje J, van der Vries, Gerben, Dooijes, Dennis, Ba

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1.33 MB

english, 2017

46

A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls

Wadman, Renske I., Stam, Marloes, Jansen, Marc D., van der Weegen, Yana, Wijngaarde, Camiel A., Harschnitz, Oliver, Sodaar, Peter, Braun, Kees P. J., Dooijes, Dennis, Lemmink, Henny H., van den Berg,

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 2.00 MB

english, 2016

47

Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy

Verhagen, Judith M. A., Veldman, Job H., van der Zwaag, Paul A., von der Thüsen, Jan H., Brosens, Erwin, Christiaans, Imke, Dooijes, Dennis, Helderman-van den Enden, Apollonia T. J. M., Lekanne Deprez

Journal:

European Journal of Human Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.47 MB

english, 2018

48

The homozygous K280N troponin T mutation alters cross-bridge kinetics and energetics in human HCM

Piroddi, Nicoletta, Witjas-Paalberends, E. Rosalie, Ferrara, Claudia, Ferrantini, Cecilia, Vitale, Giulia, Scellini, Beatrice, Wijnker, Paul J.M., Sequiera, Vasco, Dooijes, Dennis, dos Remedios, Crist

Journal:

The Journal of General Physiology

Année:

2018

Langue:

english

Fichier:

PDF, 1.56 MB

english, 2018

49

57-04: Low yield of genetic screening in patients initially diagnosed with idiopathic ventricular fibrillation

Visser, Marloes, Van Der Heijden, Jeroen, Dooijes, Dennis, Van Der Smagt, Jasper, Doevendans, Pieter, Hassink, Rutger

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 115 KB

english, 2016

50

CSF Studies Facilitate DNA Diagnosis in Familial Alzheimer's Disease Due to a Presenilin-1 Mutation

de Bot, Susanne T., Kremer, H.P.H., Dooijes, Dennis, Verbeek, Marcel M.

Journal:

Journal of Alzheimer's Disease

Année:

2009

Langue:

english

Fichier:

PDF, 190 KB

english, 2009